Anemia, congenital, nonspherocytic hemolytic, 1

Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 1;

Symbol : CNSHA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Favism, susceptibility to; Anemia, nonspherocytic hemolytic, due to g6pd deficiency;

Description : G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the glucose-6-phosphate dehydrogenase gene (G6PD, 305900.0001);

Laboratory abnormalities : Hyperbilirubinemia; Hemoglobinuria; Glucose-6-phosphate dehydrogenase (G6PD) deficiency; Elevated serum unconjugated bilirubin;

Prefixed ID : #300908;

Details

Origin ID

300908;

UMLS CUI

C2720289;

Automatic exact mappings (from CISMeF team)
- anemia, nonspherocytic hemolytic, due to G6pd deficiency [MeSH Supplementary Concept]
- anemia, nonspherocytic hemolytic, due to G6pd deficiency [MeSH concept]
DO Cross reference
- congenital nonspherocytic hemolytic anemia [DO Concept]
Genes related to phenotype
- Glucose-6-phosphate dehydrogenase [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Anisocytosis [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Decreased glucose-6-phosphate dehydrogenase level in blood [HPO term]
- Fava bean-induced hemolytic anemia [HPO term]
- Fever [HPO term]
- Heinz bodies [HPO term]
- Hemoglobinuria [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Leukocytosis [HPO term]
- Middle age onset [HPO term]
- Pallor [HPO term]
- Poikilocytosis [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
- Unconjugated hyperbilirubinemia [HPO term]
- X-linked dominant inheritance [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Class I glucose-6-phosphate dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- anemia, nonspherocytic hemolytic, due to G6pd deficiency [MeSH concept]
- anemia, nonspherocytic hemolytic, due to G6pd deficiency [MeSH Supplementary Concept]

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